Canonical Allele Identifier: CA2669481366

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002186-G-GCC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002191_1002192dup , CM000666.2:g.1002191_1002192dup	GRCh38
NC_000004.11:g.995979_995980dup , CM000666.1:g.995979_995980dup	GRCh37
NC_000004.10:g.985979_985980dup	NCBI36
NG_008103.1:g.20195_20196dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.972+30_972+31dup	ENSP00000247933.4:n.972+30_972+31dup
ENST00000514224.2:c.972+30_972+31dup MANE Select	ENSP00000425081.2:n.972+30_972+31dup
ENST00000652070.1:n.1028+30_1028+31dup
ENST00000247933.8:c.972+30_972+31dup	ENSP00000247933.4:n.972+30_972+31dup
ENST00000514224.1:c.576+30_576+31dup	ENSP00000425081.1:n.576+30_576+31dup
ENST00000514698.5:n.1002_1003dup
NM_000203.4:c.972+30_972+31dup	NP_000194.2:n.972+30_972+31dup
NR_110313.1:n.1060+30_1060+31dup
XM_006713882.2:c.576+30_576+31dup	XP_006713945.1:n.576+30_576+31dup
XM_011513459.1:c.961_962dup	XP_011511761.1:p.Ala322ArgfsTer?
XM_011513460.1:c.831+30_831+31dup	XP_011511762.1:n.831+30_831+31dup
XM_011513461.1:c.765+30_765+31dup	XP_011511763.1:n.765+30_765+31dup
XM_011513462.1:c.684+30_684+31dup	XP_011511764.1:n.684+30_684+31dup
XM_011513463.1:c.684+30_684+31dup	XP_011511765.1:n.684+30_684+31dup
XR_924947.1:n.1041+30_1041+31dup
NM_000203.5:c.972+30_972+31dup MANE Select	NP_000194.2:n.972+30_972+31dup
NM_001363576.1:c.576+30_576+31dup	NP_001350505.1:n.576+30_576+31dup
XM_011513461.2:c.765+30_765+31dup	XP_011511763.1:n.765+30_765+31dup
XM_017008163.1:c.12+30_12+31dup	XP_016863652.1:n.12+30_12+31dup